{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,2]],"date-time":"2026-07-02T00:03:31Z","timestamp":1782950611678,"version":"3.54.5"},"reference-count":14,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2016,1,20]],"date-time":"2016-01-20T00:00:00Z","timestamp":1453248000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81130021"],"award-info":[{"award-number":["81130021"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81300981"],"award-info":[{"award-number":["81300981"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81250015"],"award-info":[{"award-number":["81250015"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2016,8]]},"abstract":"<jats:p>Spinocerebellar ataxia type 36 (<jats:styled-content style=\"fixed-case\">SCA36<\/jats:styled-content>) is a new <jats:styled-content style=\"fixed-case\">SCA<\/jats:styled-content> subtype recently reported in Japanese and Spanish pedigrees. To assess the frequency and clinical characteristics of <jats:styled-content style=\"fixed-case\">SCA36<\/jats:styled-content> in patients from Mainland China, we combined the repeat\u2010primed polymerase chain reaction method and Southern blot analysis to detect the <jats:styled-content style=\"fixed-case\">GGCCTG<\/jats:styled-content> hexanucleotide repeats of <jats:italic><jats:styled-content style=\"fixed-case\">NOP56<\/jats:styled-content><\/jats:italic> in 364 probands with <jats:styled-content style=\"fixed-case\">SCA<\/jats:styled-content>, 126 probands with hereditary spastic paraplegia and 99 probands with amyotrophic lateral sclerosis (<jats:styled-content style=\"fixed-case\">ALS<\/jats:styled-content>). Systematic and targeted clinical evaluations and investigations were conducted in the <jats:styled-content style=\"fixed-case\">SCA36<\/jats:styled-content> patients. As a result, eight autosomal dominant spinocerebellar ataxia (<jats:styled-content style=\"fixed-case\">ADCA<\/jats:styled-content>) pedigrees (a total of 13 patients) and one sporadic <jats:styled-content style=\"fixed-case\">SCA<\/jats:styled-content> (S\u2010<jats:styled-content style=\"fixed-case\">SCA<\/jats:styled-content>) patient were identified as <jats:styled-content style=\"fixed-case\">SCA36<\/jats:styled-content> in the <jats:styled-content style=\"fixed-case\">SCA<\/jats:styled-content> cohort, accounting for approximately 1.60% of the cases in the <jats:styled-content style=\"fixed-case\">ADCA<\/jats:styled-content> group and 0.32% of those in the S\u2010<jats:styled-content style=\"fixed-case\">SCA<\/jats:styled-content> group in Mainland China. The characteristics include late onset and slow progression accompanied by acoustic impairments and \u2018possible\u2019 ALS phenotype in patients from Mainland China.<\/jats:p>","DOI":"10.1111\/cge.12706","type":"journal-article","created":{"date-parts":[[2015,12,10]],"date-time":"2015-12-10T09:37:31Z","timestamp":1449740251000},"page":"141-148","source":"Crossref","is-referenced-by-count":21,"title":["Genetic and clinical analysis of spinocerebellar ataxia type 36 in Mainland China"],"prefix":"10.1111","volume":"90","author":[{"given":"S.","family":"Zeng","sequence":"first","affiliation":[{"name":"Department of Neurology, Xiangya Hospital Central South University  Changsha Hunan P.R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Zeng","sequence":"additional","affiliation":[{"name":"Department of Neurology, Xiangya Hospital Central South University  Changsha Hunan P.R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"He","sequence":"additional","affiliation":[{"name":"Department of Neurology, Xiangya Hospital Central South University  Changsha Hunan P.R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"X.","family":"Zeng","sequence":"additional","affiliation":[{"name":"Department of Neurology, Xiangya Hospital Central South University  Changsha Hunan P.R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Y.","family":"Zhou","sequence":"additional","affiliation":[{"name":"Department of Neurology, Xiangya Hospital Central South University  Changsha Hunan P.R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Z.","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Neurology, Xiangya Hospital Central South University  Changsha Hunan P.R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.","family":"Xia","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Medical Genetics  Changsha Hunan P.R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Q.","family":"Pan","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Medical Genetics  Changsha Hunan P.R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.","family":"Jiang","sequence":"additional","affiliation":[{"name":"Department of Neurology, Xiangya Hospital Central South University  Changsha Hunan P.R. China"},{"name":"State Key Laboratory of Medical Genetics  Changsha Hunan P.R. China"},{"name":"Key Laboratory of Hunan Province in Neurodegenerative Disorders  Changsha Hunan P.R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.","family":"Shen","sequence":"additional","affiliation":[{"name":"Department of Neurology, Xiangya Hospital Central South University  Changsha Hunan P.R. China"},{"name":"State Key Laboratory of Medical Genetics  Changsha Hunan P.R. China"},{"name":"Key Laboratory of Hunan Province in Neurodegenerative Disorders  Changsha Hunan P.R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"X.","family":"Yan","sequence":"additional","affiliation":[{"name":"Department of Neurology, Xiangya Hospital Central South University  Changsha Hunan P.R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B.","family":"Tang","sequence":"additional","affiliation":[{"name":"Department of Neurology, Xiangya Hospital Central South University  Changsha Hunan P.R. China"},{"name":"State Key Laboratory of Medical Genetics  Changsha Hunan P.R. China"},{"name":"Key Laboratory of Hunan Province in Neurodegenerative Disorders  Changsha Hunan P.R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Neurology, Xiangya Hospital Central South University  Changsha Hunan P.R. China"},{"name":"State Key Laboratory of Medical Genetics  Changsha Hunan P.R. China"},{"name":"Key Laboratory of Hunan Province in Neurodegenerative Disorders  Changsha Hunan P.R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2016,1,20]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/105.1.1"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(10)70183-6"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.05.015"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/aws069"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1468-1331.2012.03669.x"},{"key":"e_1_2_7_7_1","volume-title":"Spinocerebellar ataxia type 36","author":"Arias M","year":"2014"},{"key":"e_1_2_7_8_1","first-page":"1","article-title":"Clinical features and classification of inherited ataxias","volume":"61","author":"Harding AE","year":"1993","journal-title":"Adv Neurol"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1080\/146608200300079536"},{"issue":"6","key":"e_1_2_7_10_1","first-page":"482","article-title":"Spinocerebellar ataxias in Mainland China: an updated genetic analysis among a large cohort of familial and sporadic cases","volume":"36","author":"Wang J","year":"2011","journal-title":"Zhong Nan Da Xue Xue Bao Yi Xue Ban"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2012.10.013"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e318260436f"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.25092"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2014-309153"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.3109\/21678421.2015.1049183"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcge.12706","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.12706","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,10]],"date-time":"2023-09-10T06:13:57Z","timestamp":1694326437000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.12706"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,1,20]]},"references-count":14,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2016,8]]}},"alternative-id":["10.1111\/cge.12706"],"URL":"https:\/\/doi.org\/10.1111\/cge.12706","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,1,20]]}}}